Three sisters struggle with four of their children diagnosed with autism

When Jason Baumgartner proposed to Nicole Smidt, she remembers telling him about a feeling she had that one day she would have a child with a developmental disability. The feeling had been with her as long as she could remember.

But when their first child was born perfectly healthy that feeling evaporated into the frenzied and beautiful everyday life of raising a child.

A month after Russell Baumgartner’s first birthday, his mother noticed that he was not engaging like some of her sisters’ children. There was no babbling. By 18 months, he still wasn’t talking. He didn’t seem connected to the world around him. Once easygoing, he was having hourly meltdowns. In fact, he was showing some of the same signs as two of her sisters’ children who had been diagnosed with autism.

Russell is now 4 years old. He was diagnosed with autism by Boise developmental pediatrician John Leavell. The doctor had also seen other children from this extended family. There are now four children from this latest generation — from toddlers to a teenager — living life on the autism spectrum.

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The federal government estimates that one in 68 children have been diagnosed with autism spectrum disorder. But each child diagnosed with autism presents a different picture that is outside of the normal developmental trajectory and that could mean varying severities of language and speech impairments, learning difficulties, repetitive behavior and communication problems. The last decade of research has led to the identification of dozens of so-called risk genes that are linked to many of the features of autism.

These are children with impaired social and communication skills that make it challenging to maneuver the world around them.

This is a story of one family’s struggle to help this generation of children strengthen the skills needed to help them communicate. It is a story of determination — sisters raising children with a puzzling brain condition that will forever mark who they are and a family that stands united in doing what it takes to help them.

Our family is doing everything we can to help our children. Our hope is that they can learn the skills that so many of us take for granted.

Nicole Baumgartner

Russell

Jason Baumgartner believed Russell’s pediatrician, who said that there was nothing wrong with the toddler. He would grow into his speech. But by his second birthday, the family switched pediatricians and the couple asked their son’s new doctor to test him for autism. The boy failed the test. He was referred to Leavell for a diagnostic examination.

By then, the couple was watching their son fade. He stopped communicating with people around him. He stopped having eye contact. He was walking on his toes and it seemed as if he was in pain when his whole foot hit the ground. He repetitively flapped his hands. Further testing confirmed that their first child had moderately severe autism. But he was only 2 ½, and Leavell said it was too soon to know where he would end up on the spectrum.

The doctor left the couple with this advice: “The more you put into him, the better his outcome will be.” Since then, Russell has been in occupational, speech and physical therapy 25 hours a week.

“When a doctor says that your child has something that will be with him for the rest of his life, it is heartbreaking,” his mother said.

The therapy would help enormously with some of the behaviors, but not others. His parents are trying to figure out a pattern of events that could explain his daily meltdowns. They are tracking his sleep and diet, and Russell’s therapists provide the parents with weekly notes on his progress. The therapists helped the family put things in place at home that have been enormously helpful, Nicole Baumgartner said. They turned a closet into sensory retreat with pillows on the floor. It is a place where Russell goes to decompress when he gets angry or frustrated, she added.

Child locks are everywhere around the house. He has to be watched around-the-clock. He loves to climb on just about anything. He loves water but doesn’t understand the difference between hot and cold. He does not understand danger. He now spends part of the weekday in a preschool for children with developmental delays.

“My hope is that someday he’ll be able to talk to us and tell us how he is feeling or what he wants for breakfast,” his mother said.

Doctors call autism a spectrum disorder because some children don’t have any spoken language and others have language but exhibit odd ways of interacting with the world around them. New studies show that the brains of people with autism spectrum disorder are wired differently. There are also a growing number of risk genes now linked to the disorder. The genes that are associated with autism help regulate communication between brain cells and the synapses that allow chemical messages to cross from one cell to the next. Scientists have also identified genes associated with brain development. Brain regions that govern emotion have also been linked to the spectrum disorder.

It has been difficult to identify common neurological threads because each child with autism has a unique set of problems. The evidence is now clear that early intervention is the key to pushing the brain into a more normal developmental path.

Jack

Tiffany Howard, Nicole Baumgartner’s sister, has a 10-year-old son with autism. Howard already had a nephew with autism when she began noticing that her son Jack was showing some similar behaviors. He was not having normal eye contact and seemed to always be on the brink of sensory overload. His daily meltdowns would last hours.

Jack was evaluated at 18 months and he fell smack in the center of the autism spectrum. He was given a diagnosis of PDD-NOS (pervasive developmental disorder not otherwise specified). This is also oftentimes called atypical autism. A year and a half later, he was officially diagnosed with Asperger’s syndrome.

The family lived in Bend, Ore., and they started him on speech and occupational therapy at 18 months. “It helped Jack learn how to soothe himself,” said his mother. “If he dropped something, he could bend down and pick it up without throwing a fit.”

The family moved to Boise when Jack was 4 and enrolled him into a special-needs preschool in Eagle. Thanks to therapy, his mother says that he has been in mainstream classes since kindergarten. He is pulled out on most days to see school therapists and work in the special classes. This is the first year he is completely integrated in his fourth-grade class, with the help of an aide.

They picked up a lot of behavioral therapy skills from watching Jack’s teachers and therapists. “He’s come a long way,” his mother added. They signed him up for baseball and basketball to help strengthen his ability to get along and fit in with other children.

His mother often has to explain to other parents what autism is, and that has made a big difference in the way people respond to him.

Howard said that she has come to see autism as a blessing. “I see the world differently now. I have more compassion for people, and Jack has taught me a lot about patience. His accomplishments are so much more rewarding.” She has an older son and a younger daughter. “He is very sweet and has an amazing ability to read facial expressions,” she says of Jack. “He takes everything literal but is just starting to understand sarcasm.”

Jayden and Isabella

Heidi Kelly is the oldest of the five Smidt siblings. Two of her four children have a diagnosis of autism. Jayden is now 15 and his baby sister, Isabella, is 3. Jayden was fussy as an infant and did not seem to meet important milestones. There was no babbling. He had no interest in playing. Kelly was living in Boise when Dr. Leavell tested Jayden and confirmed her suspicions.

“There were not many options at the time,” she said. They moved to San Diego so he could have access to better early-intervention programs, she said. He was in a special preschool program every day for three years and had behavioral therapy for an additional three hours a day.

She believes that the therapy helped him with language and sensory problems. He is considered high functioning now. Today, the family lives in Henderson, Nev. Jayden has been mainstreamed since kindergarten.

“I think the interventions he had between 18 months and 5 years made a huge impact on who he is today,” Kelly said.

Jayden is quirky and funny. He talks about electronics and science. He hangs out with his siblings, and has developed friendships with a few classmates. His mother says that he is very close to his sister Isabella, who is also autistic. “Bella was an extremely colicky baby, screaming day and night for the first year of her life. She is incredibly challenging. She has so many sensory and anxiety issues.” (ASD is far more common in boys.)

Bella also has 30 hours of behavioral therapy a week. Applied behavioral analysis, or ABA, is a common intervention and is based on principles of learning and motivation. It has been shown to work in helping autistic children strengthen language and social skills and reduce self-injury, aggression and repetitive behavior. In addition to ABA therapy, Bella is also in occupational therapy and takes part in a social skills training group.

Her mother said that she is very smart and can memorize a book in one reading. But she was very irritable and anxious from the start of life. She recently began repeating sentences that other people say. This is called echolalia and is a common behavior in people with autism. The family recently traveled to UCLA to have her assessed. They left with a diagnosis of autism. Like her brother and some of her cousins, Bella falls in the middle of the autism spectrum.

“The therapies she receives have been amazing,” her mother said. “Before she would have meltdowns anytime, anywhere. She could not handle putting on clothes, socks or hats. These behaviors are no longer part of her daily life.” Kelly believes that by the time Bella turns 5 she, too, will be mainstreamed and have a chance at a normal life.

The science behind the treatments

There is a lot of scientific evidence proving that early intervention alters the developmental trajectory in young children with autism. ABA is a common approach, but another powerful program is the Early Start Denver Model (ESDM) that uses behavioral approaches and play to strengthen language and communication skills. The therapy usually begins between 1 and 4 years old. It relies on a specific curriculum and teaching methods that follow a natural developmental path that can be used by psychologists, social workers, doctors, teachers and parents.

Scientists at the MIND Institute at the University of California-Davis conducted a randomized clinical trial of 48 children diagnosed with ASD and trained parents and therapists to deliver the intervention over a 20-hour period every week for two years. The children were compared to age-matched autistic children receiving more traditional community-based treatments.

After two years, the children who had training with the Denver method scored significantly higher on cognitive and behavioral testing. They were more social and adaptive than those children in the control group. They were also more likely to have a change in diagnosis following the treatment. The lead investigators, Sally Rogers, Ph.D., and Geraldine Dawson, Ph.D., said that training parents to deliver the program is key to its success. They published a book in collaboration with another UC-Davis colleague, Laurie Vismara, Ph.D., called “An Early Start for your Child with Autism.”

The UC-Davis team is finding that identifying at-risk infants and providing the Denver intervention helped most of them (90 percent) catch up in learning and language skills by the time they were 3 years old.

Clinicians agree that the most important way to help children at risk for autism is to identify it early and seek treatment.

“There is nothing more important than early intervention,” said Patricia Hampshire, Ph.D., a professor of early and special education at Boise State University.

BSU offers a graduate program in early and special education to help train people in delivering interventions to children with autism. Hampshire, a behavioral analyst, teaches a course on the spectrum disorder. She is studying the effectiveness in teaching self-management skills, parent coaching and developing tools to help children expand their play skills. “Play is the best way to help any young child learn,” she said.

Christine Nordahl, Ph.D., an assistant professor of psychiatry and behavioral sciences at UC-Davis, and her colleagues are also gathering information on 350 autistic children and their families. The Autism Phenome Project is collecting biological and behavioral information on an ongoing basis to begin to get a handle on the vast differences between people with autism. They are also looking at sex differences.

Lisa Gilotty, Ph.D., who oversees autism research at the National Institute of Mental Health (NIMH), said there is a lot of science underway to sort out the underlying biology that makes autism symptoms so different from person to person. Understanding the differences in these subgroups of people is critical to developing effective treatments, she said.

There is a big push across the country to conduct whole genome sequencing in individuals with autism and their families to better understand the contribution of genetics, said Anjene Addington, Ph.D., acting branch chief of genomics research at the NIMH. “There may be hundreds of genes involved in autism and it’s possible that every individual or every family might have their unique genetic signature.”

Jamie Talan is a science writer and editor-in-chief at an art and literary journal at the Hofstra North Shore LIJ School of Medicine in New York, where she is a clinical assistant professor of science education. She lives in Boise.

A Guide to Research and Programs

Autism Speaks, an advocacy organization, launched the Preclinical Autism Consortium for Therapeutics (PACT) in collaboration with scientists at UC-Davis, Boston Children’s Hospital and Vanderbilt University in Tennessee (www.autismspeaks.org). There are no federally approved medicines for autism that alter the core symptoms. This team of researchers is developing and testing models that could be used to study potential experimental drugs. The organization funds other autism research and offers parents a wealth of information and tool kits to help their autistic children strengthen the skills they need to adapt to their environment.

The National Institute of Mental Health has recently funded scientists at UCLA to rapidly test drugs that just might work one of the fundamental deficits in autism, an imbalance between the brain’s excitatory and inhibitory systems. The UCLA team (semel.ucla.edu/autism), led by James McCracken, MD, already has a drug that they are gearing up to test. It works at regulating an inhibitory chemical called GABA.

Ronald Oberleitner is a Boise businessman whose autistic son, now in this 20s, inspired him to develop technology that would help families. His company, Behavior Imaging (behaviorimaging.com/), built a watch with a GPS and a way for a caregiver to talk through a microphone to assess whether their loved one is in trouble or lost. It offers two-way communication. They also created a home assessment video tool for parents to capture specific behaviors of their children to send to doctors or therapists to help in diagnosing autism spectrum disorder.

Autism Society of America (http://www.asatv.org) is another advocacy group that has local chapters all over the country. There is a group in the Treasure Valley. Carlyle King, a board member diagnosed in adulthood with a high-functioning form of autism called Asperger’s, started a local Facebook support group called Boise Autistic Adults and Allies. The group has 243 member and they occasionally hold impromptu meetings around town. There are also monthly meetings for people with autism and their families at St. Luke’s Hospital in Meridian, and the organization provides scholarships for workshops, conferences and camps for people with autism and their parents.

Idaho Parents Unlimited (www.ipulidaho.org) offers programs for people with disabilities and their families.

The Easter Seals Disability Services also has programs for people with autism (www.easterseals.com.)